{"title":"\"A Unique Case of Branchio-Oto-Renal Spectrum Disorder\".","authors":"Digvijay Singh, Sritama De, Navdeep Singh","doi":"10.1007/s12070-024-05100-0","DOIUrl":null,"url":null,"abstract":"<p><p>A 17 year old male patient presented with bilateral preauricular sinus, right sided second branchial cleft sinus and bilateral hearing deficit. He has previous history of right congenital cataract surgery and right dacryocystorhinostomy at the age of 8 year. He was operated for branchial sinus. No family history with similar complaint was observed. According to all these features this case was the variant of branchio-oto-renal spectrum disorder with de novo mutation. According to literature search this will be a unique and rare case report of BORSD published till date in India.</p>","PeriodicalId":49190,"journal":{"name":"Indian Journal of Otolaryngology and Head and Neck Surgery","volume":"76 6","pages":"6069-6073"},"PeriodicalIF":0.6000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11569320/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian Journal of Otolaryngology and Head and Neck Surgery","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12070-024-05100-0","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/10/8 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"SURGERY","Score":null,"Total":0}
引用次数: 0
Abstract
A 17 year old male patient presented with bilateral preauricular sinus, right sided second branchial cleft sinus and bilateral hearing deficit. He has previous history of right congenital cataract surgery and right dacryocystorhinostomy at the age of 8 year. He was operated for branchial sinus. No family history with similar complaint was observed. According to all these features this case was the variant of branchio-oto-renal spectrum disorder with de novo mutation. According to literature search this will be a unique and rare case report of BORSD published till date in India.
期刊介绍：
Indian Journal of Otolaryngology and Head & Neck Surgery was founded as Indian Journal of Otolaryngology in 1949 as a scientific Journal published by the Association of Otolaryngologists of India and was later rechristened as IJOHNS to incorporate the changes and progress.
IJOHNS, undoubtedly one of the oldest Journals in India, is the official publication of the Association of Otolaryngologists of India and is about to publish it is 67th Volume in 2015. The Journal published quarterly accepts articles in general Oto-Rhino-Laryngology and various subspecialities such as Otology, Rhinology, Laryngology and Phonosurgery, Neurotology, Head and Neck Surgery etc.
The Journal acts as a window to showcase and project the clinical and research work done by Otolaryngologists community in India and around the world. It is a continued source of useful clinical information with peer review by eminent Otolaryngologists of repute in their respective fields. The Journal accepts articles pertaining to clinical reports, Clinical studies, Research articles in basic and applied Otolaryngology, short Communications, Clinical records reporting unusual presentations or lesions and new surgical techniques. The journal acts as a catalyst and mirrors the Indian Otolaryngologist’s active interests and pursuits. The Journal also invites articles from senior and experienced authors on interesting topics in Otolaryngology and allied sciences from all over the world.
The print version is distributed free to about 4000 members of Association of Otolaryngologists of India and the e-Journal shortly going to make its appearance on the Springer Board can be accessed by all the members.
Association of Otolaryngologists of India and M/s Springer India group have come together to co-publish IJOHNS from January 2007 and this bondage is going to provide an impetus to the Journal in terms of international presence and global exposure.
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